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Congenital factor VII deficiency in Iraqi children (Single Centre Experience).

ABSTRACT: Background and Objective:Factor VII (FVII) deficiency is probably one of the most common of the rare autosomal recessive coagulation disorders, with an estimated prevalence of l: 500000. All age groups can be affected with FVII deficiency. This study aimed to describe the demographic parameters, symptomatology, hemostatic values and the outcome of FVII deficiency. Methods:This is a retrospective descriptive study of patients with congenital FVII deficiency over a period of seven years from (August 2008 to August 2015). The data were collected by reviewing the files for each patient diagnosed with FVII deficiency. Surgical interventions, complications and follow up visits were recorded. Results:Twenty-four patients were included in this study, 17 females and seven males, below one year was the most common age at presentation. More than half of patients (58.3%) were diagnosed within six months of symptoms onset. The majority of patients had severe phenotype. The most common symptom was epitaxis (41.7%). Five out of 10 patients with FVII level < 1% have either mild to moderate phenotype of the disease without complications; while six out of 14 patients with FVII > 1% had at least one episode of severe bleeding. Three patients had hepatitis C; all were treated by blood products before the introduction of recombinant FVII in Iraq. The outcome of most patients (75%) was normal without complications at time of study. Conclusion:Clinical manifestations of FVII deficiency are variable and they are not necessarily correlated to the FVII level.

SUBMITTER: Khudhair AA

PROVIDER: S-EPMC6994885 | biostudies-literature | 2020 Jan-Feb

REPOSITORIES: biostudies-literature

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Congenital factor VII deficiency in Iraqi children (Single Centre Experience).

Khudhair Ali Ahmed AA Salih Afrah Abdul-Mahdi AA Kadhum Ausama Jamal AJ

Pakistan journal of medical sciences 20200101 2

<h4>Background and objective</h4>Factor VII (FVII) deficiency is probably one of the most common of the rare autosomal recessive coagulation disorders, with an estimated prevalence of l: 500000. All age groups can be affected with FVII deficiency. This study aimed to describe the demographic parameters, symptomatology, hemostatic values and the outcome of FVII deficiency.<h4>Methods</h4>This is a retrospective descriptive study of patients with congenital FVII deficiency over a period of seven y ...[more]

PMID: 32063955

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Project description:In neonates, congenital factor VII deficiency (FVIID) is characterized by central nervous system bleeding and gastrointestinal hemorrhage, often resulting in poor prognosis and high mortality.To improve understanding of FVIID in neonates in Asia, we retrospectively analyzed the clinical manifestations, diagnosis, treatment, clinical course, and genetic diagnosis of 2 cases of neonatal FVIID in the Department of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou, China, from January 2007 to December 2017 and performed a review of the relevant literature.Both neonates were female and presented with severe gastrointestinal tract and intracranial hemorrhage. The laboratory findings were characterized by repeated and non-vitamin K1-dependent prolonged of the prothrombin time (PT), Factor VII (FVII) activity was 1.5% and 3%, respectively. Both neonates died of severe intracranial hemorrhage, at 31 days and 6 months after birth, respectively. Gene sequencing results revealed a homozygous mutation in the FVII gene splice site (IVS7+1G>T) in both cases. Upon review of relevant literature published since 1996, we identified 19 cases of neonatal FVIID. The patients were full-term neonates with onset of symptoms mostly within 7 days after birth (73.7%), which included gastrointestinal bleeding (blood stool, vomiting blood; 31.6%), nervous system signs (drowsiness, convulsions, poor response; 26.3%), severe intracranial hemorrhage (84.2%), significantly prolonged PT with significantly decreased FVII activity (89.5%), high mortality, and disability (68.4%). Gene sequencing was performed in 9 of the 19 children evaluated and revealed a mutation in the FVII gene in all cases.FVIID can be clinically diagnosed based on the presence of prolonged PT that is difficult to correct and significantly decreased FVII activity (≤5%). As mutations in some sites are associated with severe bleeding, genetic diagnosis represents a useful tool for prenatal diagnosis of FVIID. In brief, we should pay great attention to the FVIID onset of the neonatal period, although it is rare but result in life-threatening bleeding with poor prognosis.

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Congenital factor VII deficiency in Iraqi children (Single Centre Experience).

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Congenital factor VII deficiency in Iraqi children (Single Centre Experience).

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